Canonical Allele Identifier: CA346758051

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1729213
• ClinVar RCV Id: RCV002324752
• MyVariant Identifiers: chr2:g.48030618G>T (hg19) ; chr2:g.47803479G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803479G>T , CM000664.2:g.47803479G>T	GRCh38
NC_000002.11:g.48030618G>T , CM000664.1:g.48030618G>T	GRCh37
NC_000002.10:g.47884122G>T	NCBI36
NG_007111.1:g.25333G>T , LRG_219:g.25333G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2935G>T (MSH6)	ENSP00000406248.2:p.Val979Leu
ENST00000420813.6:c.2935G>T (MSH6)	ENSP00000390382.2:p.Val979Leu
ENST00000455383.6:c.2935G>T (MSH6)	ENSP00000397484.2:p.Val979Leu
ENST00000700004.2:c.3173-2139G>T (MSH6)	ENSP00000514752.2:n.3173-2139G>T
ENST00000699999.1:n.3316G>T (MSH6)
ENST00000700000.1:c.1666G>T (MSH6)	ENSP00000514749.1:p.Val556Leu
ENST00000700002.1:c.3238G>T (MSH6)	ENSP00000514750.1:p.Val1080Leu
ENST00000700003.1:c.687G>T (MSH6)	ENSP00000514751.1:p.Gln229His
ENST00000700004.1:c.2330-2139G>T (MSH6)	ENSP00000514752.1:n.2330-2139G>T
ENST00000700005.1:n.2083G>T (MSH6)
ENST00000700006.1:n.2080G>T (MSH6)
ENST00000700007.1:n.1237G>T (MSH6)
ENST00000700008.1:n.811G>T (MSH6)
ENST00000700009.1:n.810G>T (MSH6)
ENST00000700010.1:n.641G>T (MSH6)
ENST00000700011.1:n.712G>T (MSH6)
ENST00000234420.11:c.3232G>T (MSH6) MANE Select	ENSP00000234420.5:p.Val1078Leu
ENST00000540021.6:c.2842G>T (MSH6)	ENSP00000446475.1:p.Val948Leu
ENST00000652107.1:c.2935G>T (MSH6)	ENSP00000498629.1:p.Val979Leu
ENST00000673637.1:c.2935G>T (MSH6)	ENSP00000501310.1:p.Val979Leu
ENST00000234420.9:c.3232G>T (MSH6)	ENSP00000234420.4:p.Val1078Leu
ENST00000405808.5:c.169+4716C>A (FBXO11)	ENSP00000385127.1:n.169+4716C>A
ENST00000434234.5:c.*124+4515C>A (FBXO11)	ENSP00000402692.1:n.*124+4515C>A
ENST00000445503.5:c.*2579G>T (MSH6)	ENSP00000405294.1:n.*2579G>T
ENST00000538136.1:c.2326G>T (MSH6)	ENSP00000438580.1:p.Val776Leu
ENST00000540021.5:c.2842G>T (MSH6)	ENSP00000446475.1:p.Val948Leu
ENST00000614496.4:c.2326G>T (MSH6)	ENSP00000477844.1:p.Val776Leu
ENST00000622629.4:c.136G>T (MSH6)	ENSP00000482078.1:p.Val46Leu
NM_000179.2:c.3232G>T , LRG_219t1:c.3232G>T (MSH6)	NP_000170.1:p.Val1078Leu
NM_001281492.1:c.2842G>T (MSH6)	NP_001268421.1:p.Val948Leu
NM_001281493.1:c.2326G>T (MSH6)	NP_001268422.1:p.Val776Leu
NM_001281494.1:c.2326G>T (MSH6)	NP_001268423.1:p.Val776Leu
XM_005264271.1:c.2935G>T (MSH6)	XP_005264328.1:p.Val979Leu
XM_011532798.1:c.3049G>T (MSH6)	XP_011531100.1:p.Val1017Leu
XM_011532799.1:c.2935G>T (MSH6)	XP_011531101.1:p.Val979Leu
XM_011532800.1:c.2935G>T (MSH6)	XP_011531102.1:p.Val979Leu
XM_024452819.1:c.3232G>T (MSH6)	XP_024308587.1:p.Val1078Leu
XM_024452820.1:c.3049G>T (MSH6)	XP_024308588.1:p.Val1017Leu
XM_024452821.1:c.2935G>T (MSH6)	XP_024308589.1:p.Val979Leu
XM_024452822.1:c.2326G>T (MSH6)	XP_024308590.1:p.Val776Leu
NM_000179.3:c.3232G>T (MSH6) MANE Select	NP_000170.1:p.Val1078Leu
NM_001281492.2:c.2842G>T (MSH6)	NP_001268421.1:p.Val948Leu
NM_001281493.2:c.2326G>T (MSH6)	NP_001268422.1:p.Val776Leu
NM_001281494.2:c.2326G>T (MSH6)	NP_001268423.1:p.Val776Leu